A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam

Hussain, Shanawaz; Prasad, Manish; Rittey, Chris; Desurkar, Archanna

doi:10.1177/0883073812460094

Cited by 3 publications

(4 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although no epileptiform discharges were observed, the patient was treated with anti-epileptic medication (levetiracetam) for 6 mo because the use of levetiracetam in a child with hyperekplexia was reported to have dramatically decreased the frequency of attacks (Hussain et al 2013). After the introduction of levetiracetam in our patient, we have observed a relaxation of initially increased muscle tone, but there were no changes in the hyperekplexia attacks.…”

Section: Discussionmentioning

confidence: 99%

Novel mutations in SLC6A5 with benign course in hyperekplexia

Dafsari

Kawalia

Sprute

et al. 2019

Cold Spring Harb Mol Case Stud

View full text Add to dashboard Cite

Infants suffering from life-threatening apnea, stridor, cyanosis, and increased muscle tone may often be misdiagnosed with infantile seizures and inappropriately treated because of lack and delay in genetic diagnosis. Here, we report a patient with increased muscle tone after birth and hypertonic attacks with life-threatening apnea but no epileptiform patterns in EEG recordings. We identified novel compound heterozygous variants in SLC6A5 (NM_004211.4:c.[1429T > C];[1430delC]) by trio whole-exome sequencing, containing a base deletion inherited by the asymptomatic mother leading to a frameshift (c.1430delC, p.Ser477PhefsTer9) and a de novo base exchange leading to an amino acid change (c.1429T > C, p.Ser477Pro). To date, there are four known disease-associated genes for primary hyperekplexia, all of which are involved in the functioning of glycinergic synapses. SLC6A5 encodes the sodium- and chloride-dependent glycine transporter 2 (GlyT2), which recaptures glycine, a major inhibitory transmitter in the brainstem and spinal cord. The diagnosis altered the patient's medical care to his benefit because SLC6A5 mutations with rather benign courses of hyperekplexia may be spared of needless pharmacotherapy. Symptoms eventually decreased in frequency until about once in 2 mo at 2 yr age. We present the first report of halting hyperekplexia episodes by maternal soothing in multiple instances. We highlight the importance of clarifying the genetic diagnosis by rapid next-generation sequencing techniques in this group of infantile apneic attacks with hyperekplexia due to the broad differential diagnoses.

show abstract

Section: Discussionmentioning

confidence: 99%

Novel mutations in SLC6A5 with benign course in hyperekplexia

Dafsari

Kawalia

Sprute

et al. 2019

Cold Spring Harb Mol Case Stud

View full text Add to dashboard Cite

show abstract

“…Hyperekplexia is a rare non epileptic disorder the exact prevalence of which is unknown. This rare condition can present in the neonatal period or early infancy, although late presentations have also been described [8]. It is characterized by two abnormal forms of response to unexpected auditory, visual and somesthetic stimuli, namely sustained tonic spasm (tonic extension of both upper and lower limbs or flexion of upper with extension of lower limbs) and the exaggerated startle response (which is a basic alerting reaction with stereotyped features consisting of eye blinking, facial grimacing, flexion of head, elevation of shoulders, and flexion of elbows, trunk and knees) [9].…”

Section: Discussionmentioning

confidence: 99%

“…Others drugs such as phenobarbital, phenytoin, diazepam and sodium valproate have shown no efficacy. One case treated with levetiracetam after failure of treatment with clonazepam has been reported [8].…”

Section: Discussionmentioning

confidence: 99%

Hyperekplexia, A Rare Cause of Neonatal Hypertonia: Report of Two Cases

2019

JPNB

View full text Add to dashboard Cite

Hyperekplexia (startle disease) is a rare neurogenetic disorder, frequently misdiagnosed with the risk of choking on food, apnea and sudden death. Recognition of this disorder in the neonatal period is essential to avoid erroneous diagnoses and to start early treatment that has proven effective. We report two cases of two newborns who were initially admitted in our neonatal intensive care unit for management of suspected tetanus and epilepsy. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was retained in both cases and a low dose of clonazepam was administered. The symptoms gradually decreased until disappearance of hypertonia and startles.

show abstract

“…Valproic acid has been found to be effective as well; but the risk of hepatotoxicity in neonates and infants is high. A case of neonatal hyperekplexia was reported to respond to levetiracetam after failure of clonazepam [23].…”

Section: Discussionmentioning

confidence: 99%

Novel GLRB Gene Mutation in a Saudi Baby with Hyperekplexia

Rizk¹

2014

INDJ

View full text Add to dashboard Cite

Aim:We aim to describe a case of hyperekplexia in a Saudi neonate due to Novel mutation in GLRB. Case Presentation: One month old Saudi neonate with hypertonicity, repetitive episodes of jitteriness and exaggerated startle reflex. Discussion: Hyperekplexia (OMIM:149400, 138492 & 604159) is considered a rare, autosomal dominant neurological disorder that presents early in life with hypertonicity, exaggerated startle response and life threatening neonatal apnea. It has been caused by mutation in the alpha-1subunit (GLRA1) on chromosome 5q32, Beta subunit (GLRB) gene on chromosome 4q31 of the inhibitory glycine receptor and GLYT2 gene (SLC6A5) on chromosome 11p15 which encodes a presynaptic glycine transporter. Conclusion: Raising awareness of the presence of this treatable disease may prevent unnecessary exposure to anti-epileptic medications, prevent life threatening apneas and improve long term outcome.

show abstract

A Startling Case of Neonatal Hyperekplexia Responsive to Levetiracetam

Cited by 3 publications

References 9 publications

Novel mutations in SLC6A5 with benign course in hyperekplexia

Novel mutations in SLC6A5 with benign course in hyperekplexia

Hyperekplexia, A Rare Cause of Neonatal Hypertonia: Report of Two Cases

Novel GLRB Gene Mutation in a Saudi Baby with Hyperekplexia

Contact Info

Product

Resources

About